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首页> 外文期刊>Genetic testing and molecular biomarkers >Screening for the GJB2 c.-3170 GA (IVS 1+1 GA) Mutation in Brazilian Deaf Individuals Using Multiplex Ligation–Dependent Probe Amplification
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Screening for the GJB2 c.-3170 GA (IVS 1+1 GA) Mutation in Brazilian Deaf Individuals Using Multiplex Ligation–Dependent Probe Amplification

机译：筛查GJB2 c - 3170 G A(静脉注射1 + 1 G )巴西的突变个体使用充耳不闻多路复用Ligation-Dependent探测器放大

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摘要

Mutations in GJB2 gene are the most common cause of nonsyndromic sensorineural recessive hearing loss. One specific mutation, c.35delG, is the most frequent in the majority of Caucasian populations and may account for up to 70% of all GJB2 mutations. However, 10-40% of the patients carry only one pathogenic mutation in the GJB2 gene. Deletions del(GJB6-D13S1830) and del(GJB6-D13S1854), truncating the GJB6 gene, have been detected in GJB2 heterozygous patients in different populations. The IVS 1+1 G>A splice site mutation in the noncoding region of the GJB2 gene has been found in heterozygous state in addition to c.35delG mutation. This mutation has not been reported in Brazilian deaf patients. In the present study we investigated the presence of the IVS 1+1 G>A mutation by multiplex ligation-dependent probe amplification in 185 unrelated Brazilian patients with autosomal recessive nonsyndromic sensorineural hearing loss (43 heterozygous patients and 142 without any pathogenic mutation in the GJB2-coding region). We have found two patients (4.6%) carrying the IVS 1+1 G>A mutation in compound heterozygous with c.35delG mutation.
机译：GJB2基因突变是最常见的原因的nonsyndromic神经性隐性的听证会的损失。最频繁的大多数白人人口和可能占到70%GJB2突变。只带一个致病性GJB2突变已发现GJB2杂合的病人吗在不同的人群。网站GJB2突变在非编码区域基因杂合的状态中被发现除了c.35delG突变。没有报道巴西聋患者。目前的研究中我们调查的存在静脉注射1 + 1 G >多路复用的突变185年ligation-dependent探测器放大巴西常染色体患者无关隐性nonsyndromic感音神经性听力损失(43杂合的病人和142没有任何致病性突变GJB2-coding地区)。我们发现了两个病人(4.6%)携带静脉注射1 + 1 G >突变复合杂合的c.35delG突变。

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